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Annales d'Endocrinologie

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  1. [Paternal GNAS mutations: Which phenotypes? What genetic counseling?].

    Annales d'Endocrinologie 76(2):105 (2015) PMID 25952723

    Parental imprinting and the type of the genetic alteration play a determinant role in the phenotype expression of GNAS locus associated to pseudohypoparathyroidism (PHP). GNAS locus gives rise to several different messenger RNA transcripts that are derived from the paternal allele, the maternal ...
  2. Primary hyperparathyroidism and vitamin D deficiency.

    Annales d'Endocrinologie 76(2):153 (2015) PMID 25916759

    Primary hyperparathyroidism (PHPT) and vitamin D (VD) deficiency are frequent conditions due to the widespread application of assays for calcium and VD. PHPT presentation is dominated by diversity in its expression and the current predominance of asymptomatic forms. VD, which plays a major role ...
  3. Parathyroid carcinoma: Challenges in diagnosis and treatment.

    Annales d'Endocrinologie 76(2):169 (2015) PMID 25910997

    Parathyroid carcinoma is a malignant neoplasm affecting 0.5 to 5.0% of all patients suffering from primary hyperparathyroidism. This cancer continues to cause challenges for diagnosis and treatment because of its rarity, overlapping features with benign parathyroid disease, and lack of distinct ...
  4. Primary hyperparathyroidism and nephrolithiasis.

    Annales d'Endocrinologie 76(2):116 (2015) PMID 25911000

    Calcifications in the kidneys may occur in the parenchyma (nephrocalcinosis), pelvis renis (nephrolithiasis) or ureters (ureterolithiasis). Several factors may protect against stone formation or promote precipitation of stones. Most stones contain calcium, and the hypercalciuria seen in primary ...
  5. Genetic and epigenetic defects at the GNAS locus cause different forms of pseudohypoparathyroidism.

    Annales d'Endocrinologie 76(2):92 (2015) PMID 25882888

  6. Treatment with rhPTH in children.

    Annales d'Endocrinologie 76(2):178 (2015) PMID 25910999

  7. Genetic evaluation in primary hyperparathyroidism: What investigation? For which patients?

    Annales d'Endocrinologie 76(2):142 (2015) PMID 25935325

  8. How to manage an isolated elevated PTH?

    Annales d'Endocrinologie 76(2):134 (2015) PMID 25882890

    The aim of this article is to discuss the diagnostic approach of an increased serum PTH concentration in a normocalcemic, normophosphatemic patient. Detection of this biological presentation is frequent in routine practice all the more that PTH reference values established in vitamin D replete s...
  9. Asymptomatic and mild primary hyperparathyroidism.

    Annales d'Endocrinologie 76(2):120 (2015) PMID 25882891

    Primary hyperparathyroidism is common, with epidemiological studies suggesting it may effect up to 1% of the population, and up to 3% of post-menopausal females. Many cases are diagnosed incidentally on routine blood sampling, with the majority of patients being seemingly asymptomatic at diagnos...
  10. Hypoparathyroidism - disease update and emerging treatments.

    Annales d'Endocrinologie 76(2):84 (2015) PMID 25882889

    Parathyroid hormone (PTH) is the primary regulator of blood calcium levels and bone metabolism. Insufficient levels of PTH lead to hypoparathyroidism, characterized by low serum calcium and elevated serum phosphate levels. It is most commonly caused by the inadvertent damage to the parathyroid g...